NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) AND Tuberous sclerosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004001600.2
Allele description [Variation Report for NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)]
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln)
Condition(s)
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Mus musculus sema domain, immunoglobulin domain (Ig), short basic domain, secret...
Mus musculus sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (Sema3f), transcript variant 2, mRNAgi|2225703232|ref|NM_011349.4|Nucleotide
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Profile neighbors for GEO Profiles (Select 123292543) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 72512410) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 72464873) (20)
GEO Profiles
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Adrenocortical adenomas harboring β-catenin gene CTNNB1 mutations
Adrenocortical adenomas harboring β-catenin gene CTNNB1 mutationsAccession: GDS3912GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024